ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)

dbSNP: rs533306015
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220022 SCV000279416 pathogenic not provided 2019-05-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11180599, 11139239)
Invitae RCV000468229 SCV000545810 pathogenic Alagille syndrome due to a JAG1 point mutation 2016-04-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating variants in JAG1 are known to be pathogenic (PMID: 11180599, 12497640). This particular variant was observed de novo in an individual with Alagille syndrome (PMID: 11180599). This sequence change creates a premature translational stop signal at codon 806 (p.Cys806*) of the JAG1 gene. It is expected to result in an absent or disrupted protein product.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.